1. Pediatric Database CORNELIA de lange syndrome. DEFINITION A disorder of unknown etiology resulting in a syndrome characterized by http://www.icondata.com/health/pedbase/files/CORNELIA.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/15/94 CORNELIA DE LANGE SYNDROME DEFINITION: A disorder of unknown etiology resulting in a syndrome characterized by specific dysmorphic features. EPIDEMIOLOGY: incidence: 1/30,000-60,000 live births age of onset: newborn (dysmorphic features) risk factors: familial - ? autosomal recessive chrom. #: 3q26.3 gene: ? M = F no geographic predisposition (worldwide) HISTORY: 1. 1916 - W. Brachmann young physician in training interrupted study of case to report for active duty - WW1 patient: 1st child, SVD @ 1600g @ term admitted to hospital on day 6 - weak and vomiting finally refused all nourishment and died at 16 days of pneumonia dysmorphic features: microcephaly, brachycephaly, sloped forehead, micrognathia, beaked nose, well-formed ears - small arms with hypoplastic forearms, flexed at elbows, antecubital web, symmetrical monodactyly with 2 phalanges dwarfism, cervical ribs, hirsutism report found by Dr. Opitz (U. of Wisconsin) in 1963 Opitz (1965) recommended "Brachmann-de Lange Syndrome BDLS" 2. 1933 - Cornelia de Lange (1971-1950)

2. Baylee's Web Suite, Cornelia De Lange Syndrome Specially geared towards new parents, family and friends of CdLS children. Information about the disease as well as Baylee's personal progress. http://www.geocities.com/Heartland/Plains/1508/

Oh, I believe there are Angels among us, sent down to us from somewhere up above. They come to you and me in our darkest hours to show us how to live to teach us how to give to guide us with a light of love.... From "Angels Among Us", sung by Alabama. This is Baylee and she was born with the Cornelia de Lange Syndrome on April 8, 1996. We are glad you stopped by! We want to tell you a little about Baylee and CdLS. This page is especially geared towards new parents, family and friends of CdLS children but all are welcome! CdLS is a very rare syndrome and you've probably never met someone who has it. So by the miracle of the internet, this page will allow us to meet, if only in cyberspace. What is Cornelia de Lange Syndrome? CdLS is thought to be genetic in nature and like other syndromes, individuals affected by it tend to resemble each other. Common characteristics include slow growth, small stature, microcephaly, excessive body hair, upper limb defects, heart defects, gastroesophageal reflux and developmental delays. Facial features include eyebrows that meet over the nose, upturned nose and thin, downturned lips. Childern are born with CdLS in every country in the world to people of all races, creeds and nationality. For everthing you would ever want to know about CdLS contact The Cornelia de Lange Syndrome Foundation . They are an excellent source of information and support for family and friends of children with CdLS! To network with other parents of children with CdLS, please visit our

3. CdLS-USA Outreach Family support organization which exists to ensure the early and accurate diagnosis of CdLS, promote Category Health Support Groups Conditions and Diseases Genetic......The Cornelia de lange syndrome (CdLS) Foundation is a nonprofit 501 (c)(3) voluntary health organization based in Avon, Connecticut (USA). http://www.cdlsusa.org/

The initial developer of this Java applet is SoftCorporation LLC. href="http://www.softcorporation.com/products/textbanner" A Community United by Cornelia de Lange Syndrome Contact the Foundation THE SYNDROME: FAQs About CdLS Treatment Protocols Growth Charts Ask the Doctor (SAC On-Line) ... Internet Links THE FOUNDATION: Our Mission Statement About the Foundation Member Directory Join the Foundation PUBLICATIONS: Facing the Challenges Enfrentando los Desafíos Articles about CdLS CyberNews Archives ... Request Informational Material Click the image to the left to view the CdLS Awareness flyer A Certain Kind of Love Go to www.acertainkindoflove.com to learn more about the book of the same name. You can also read a review of Jean Crowley's (mother of a CdLS child) book in the March/April issue of Reaching Out Reaching Out Featured Article Click this link to read Dr. Richard Mungo's article, Healthy Smiles , from a recent issue of Reaching Out . See the links under FEATURED ARTICLES below for more articles and additional information... Schedule Your CdLS Event Online Did you know that you can schedule your CdLS Awareness Activity or CdLS Gathering online? The online forms are accessible via the links below (they are also available via the "schedule your CdLS EVENT" links at the top and bottom of the

4. FAQs About CdLS Why is it called Cornelia de lange syndrome (CdLS)? Can CdLS be detected beforebirth? Top of Page. How is Cornelia de lange syndrome (CdLS) recognized? http://www.cdlsusa.org/faqs_about_cdls.htm

Return to our Home Page THE SYNDROME: FAQs About CdLS Treatment Protocols Growth Charts Ask the Doctor (SAC On-Line) SAC Answers ... Internet Links FAQs About CdLS What is a Syndrome? How is CdLS recognized? Why is it called Cornelia de Lange Syndrome (CdLS)? How many people have CdLS? ... If my child has CdLS, what can I expect? What is a syndrome? "Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it. Top of Page How is Cornelia de Lange Syndrome (CdLS) recognized? CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.

5. The Contact A Family Directory - CORNELIA DE LANGE SYNDROME A description of Cornelia de lange syndrome, its inheritance patterns and prenatal diagnosis. http://www.cafamily.org.uk/Direct/c72.html

printer friendly CORNELIA DE LANGE SYNDROME home more about us in your area conditions information ... how you can help search this site Cornelia de Lange: Brachmann-de Lange: De Lange I Syndrome: Amsterdam dwarfism Cornelia de Lange Syndrome (CDLS) is rare and affects between 1 in 40,000 and 1 in 100,000 babies born. Children with Cornelia de Lange Syndrome have a particular facial appearance and often look like brothers and sisters. They are small at birth and remain small compared to children of the same age. The ability to learn is delayed in children but this varies from mild to severe. Almost all have limb abnormalities which range from small arms to complete absence of the forearms. Feeding and bowel problems, particularly gastro-oesophageal reflux, are also present. In almost all cases the children will have an unusual marbled appearance to the skin on their arms and legs, particularly when they are cold. Some of the children will have psychological and behavioural problems including autistic-like features and self-injury. Other problems including heart problems may also be present. Inheritance patterns The cause of Cornelia de Lange syndrome is not known although it is almost certainly due to a genetic fault. It is rare for this condition to occur twice in the same family.

6. Cornelia De Lange Syndrome de lange syndrome information, national and international support groups, clinics with genetic counselors and geneticists http://www.kumc.edu/gec/support/cornelia.html

de Lange syndrome Cornelia de Lange syndrome, Brachman-DeLange Cornelia de Lange Syndrome Foundation 302 West Main Street, #100 Avon, CT 06001 Telephone: 800.223.8355 or 860.676.8166 Fax: 860.676.8337 E-mail: info@cdlsusa.org Web site: www.cdlsusa.org or www.cdlsoutreach.org/ CdLSWorld , international organizations Australasia (Australia, Malaysia, New Zealand, Philippines, Singapore and SE Asia) CdLS Association (Australasia), Inc. 159 Boddington Crescent Australian Capital Territory Kambah 2902 AUSTRALIA E-mail: pcrawfor@dynamite.com.au Phone: 02 62 31 6866 Web site: www.cdlsaus.org/ New South Wales / Capital Territory Coordinator 135 Princes Street Putney, New South Wales 2112 AUSTRALIA E-mail: jrollo@one.net.au Phone: 02 9809 0287 New Zealand 11 Winsomere Circle Westmere, Auckland 2 NEW ZEALAND E-mail: vernon@ptgroup.co.nz Phone: 09 378 0720 Malaysia and Singapore 20-25-2 Angkupuri Condominium Jalan 1/70C off Jalan Bukit Kiara 50480 Kuala Lampur MALAYSIA E-mail: mohdnor@simenet.com

7. CdLS-USA Outreach Synonyme(s) cornelia de lange, syndrome ; syndrome de lange . Voir aussi retard mental http://www.cdlsoutreach.org/

The initial developer of this Java applet is SoftCorporation LLC. href="http://www.softcorporation.com/products/textbanner" A Community United by Cornelia de Lange Syndrome Contact the Foundation THE SYNDROME: FAQs About CdLS Treatment Protocols Growth Charts Ask the Doctor (SAC On-Line) ... Internet Links THE FOUNDATION: Our Mission Statement About the Foundation Member Directory Join the Foundation PUBLICATIONS: Facing the Challenges Enfrentando los Desafíos Articles about CdLS CyberNews Archives ... Request Informational Material Click the image to the left to view the CdLS Awareness flyer A Certain Kind of Love Go to www.acertainkindoflove.com to learn more about the book of the same name. You can also read a review of Jean Crowley's (mother of a CdLS child) book in the March/April issue of Reaching Out Reaching Out Featured Article Click this link to read Dr. Richard Mungo's article, Healthy Smiles , from a recent issue of Reaching Out . See the links under FEATURED ARTICLES below for more articles and additional information... Schedule Your CdLS Event Online Did you know that you can schedule your CdLS Awareness Activity or CdLS Gathering online? The online forms are accessible via the links below (they are also available via the "schedule your CdLS EVENT" links at the top and bottom of the

8. NORD - Cornelia De Lange Syndrome Offers the synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=30

9. Cornelia De Lange Syndrome Hello, and welcome to Jessica's Place. Jessica was born in September 1996 andwas diagnosed with Cornelia de lange syndrome (CdLS) at two months of age. http://www.geocities.com/Heartland/Meadows/8874/

Hello, and welcome to Jessica's Place. Jessica was born in September 1996 and was diagnosed with Cornelia de Lange Syndrome (CdLS) at two months of age. With this web site, we'd like to share a little bit of Jessica's life and experience with CdLS in hopes of reaching out to families, caregivers, teachers and others who have a person with CdLS in their lives; as well as those interested in learning more about the syndrome. home what is CdLS? about me photos ... View Guestbook

10. Cornelia De Lange Syndrome What is CdLS? Cornelia de lange syndrome (CdLS) is a rare syndrome with no known cause. http://www.geocities.com/Heartland/Meadows/8874/cdls.html

What is CdLS? Cornelia de Lange Syndrome (CdLS) is a rare syndrome with no known cause. Individuals with CdLS often strongly resemble each other and share many common characteristics such as small stature, small hands and feet, eyebrows that meet mid-line, long eyelashes, short upturned nose, and thin downturned lips. Limb anomolies, usually with the fingers, hands or forearms, are also found. The most common medical difficulties are gastroesophageal reflux, feeding and digestive problems, seizures, cleft palate and heart defects. The majority experience developmental delays; the most significant delay being speech. For more information about CdLS, please visit the CdLS Foundation web site. Support Because it is such a rare syndrome it is often difficult to find local families or support groups. The internet offers a wonderful opportunity for families to connect. If you have a person with CdLS in your life and would like to communicate with other CdLS families, please visit the CdLS Online Support Group web site. home what is CdLS?

11. Cornelia De Lange Syndrome Library C D. Cornelia de lange syndrome. Who to Contact. The Corneliade lange syndrome Foundation, Inc. 302 West Main Street, 100 http://www.familyvillage.wisc.edu/lib_cdls.htm

Cornelia de Lange Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Cornelia de Lange Syndrome" Who to Contact The Cornelia de Lange Syndrome Foundation, Inc. 302 West Main Street, #100 Avon, CT 06001 860-676-8337 - Fax Where to Go to Chat with Others CDLS-KIDS An e-mail discussion list for parents, caregivers, extended family, and friends of children with CDLS. CDLS On-Line Parent Support Group Amanda's RoomChat Room link Learn More About It Facts About Cornelia de Lange Syndrome Cornelia de Lange Syndrome Information from NORD Cornelia de Lange Syndrome information from OMIM Cornelia de Lange Syndrome information from Ped Base Web Sites Cornelia de Lange Syndrome Foundation Web Site Jessica's Place Amanda's Room Baylee's Home Page ... Maddy's Farm Back to [ C - D Family Village Home Library Coffee Shop ... Information Last Updated March 25, 1999 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_cdls.htm

12. HONselect - De Lange Syndrome Translate this page English de lange syndrome, - Brachmann-de lange syndrome - Cornelia De LangeSyndrome - De Lange's Syndrome - Typus Degenerativus Amstelodamensis http://www.hon.ch/HONselect/RareDiseases/C10.271.300.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: De Lange Syndrome - Brachmann-De Lange Syndrome - Cornelia De Lange Syndrome - De Lange's Syndrome - Typus Degenerativus Amstelodamensis - Amstelodamensis, Typus Degenerativus - Brachmann De Lange Syndrome Français: DE LANGE, SYNDROME - CORNELIA DE LANGE, SYNDROME - SYNDROME DE LANGE Deutsch: De-Lange-Syndrom - Geistige Behinderung - Brachmann-De-Lange Syndrom - Cornelia-De-Lange-Syndrom Español: SINDROME DE DE LANGE - SINDROME DE BRACHMANN-DE LANGE - SINDROME DE CORNELIA DE LANGE Português: SINDROME DE DE LANGE - SINDROME DE BRACKMANN-DE LANGE - SINDROME DE CORNELIA DE LANGE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español Yes Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.271.300.html Last modified: Thu Jul 25 2002

13. CdLS Online Support Group Copyright CdLS Online Support Group All rights reserved Contact us contact@cdlssupport.orgNot affiliated with the Cornelia de lange syndrome Foundation. http://www.cdls-support.org/

"What the caterpillar thinks is the end of the world ...the butterfly knows is only the beginning." CdLS-KIDS Stay connected! Join our email discussion list. CdLS-AMIGOS Se habla espanol. CdLS-SIBLINGS Email group just for siblings. CdLS-Remembered Support for those who have lost a loved one with CdLS. CHAT Get in on the fun with our weekly chats. MESSAGE BOARD Visit our online discussion forum. CdLS FACTS Learn about CdLS. LINKS Links to CdLS home pages and other CdLS-related sites. NEW FAMILIES Letters of support for new CdLS families. INSPIRATION Stories and poems contributed by our members. MEMORIAL PAGE In loving memory of our CdLS angels. Parents sharing adaptive devices that work for their children w/CdLS. TEAM CdLS Raising awareness and funds for the CdLS Foundation. GUESTBOOK Please take a moment and sign our guestbook. Sign/View EMAIL Email us. GALLERY Photos of our kids. SUGGESTION BOX Got a suggestion, comment or question? Use this form! Contact us: contact@cdls-support.org Not affiliated with the Cornelia de Lange Syndrome Foundation Welcome to the Cornelia de Lange Syndrome (CdLS) Online Support Group . The group was started by several moms who met regularly online and realized how wonderful it was to have a convenient way of communicating. CdLS is rare enough that finding other parents in close proximity is not always feasible. Now, through this miracle of technology, we can connect with others who have much in common...wherever we may be in the world. We are no longer alone!

14. Special Child: Disorder Zone Archives - Cornelia De Lange Syndrome Cornelia de lange syndrome Madalyn Gilchrist. Cornelia de lange syndrome (CdLS) isa disorder that results in several physical and developmental abnormalities. http://www.specialchild.com/archives/dz-010.html

Disorder Zone Archives Cornelia de Lange Syndrome Madalyn Gilchrist Ketchel Clements Introduction Cornelia de Lange syndrome (CdLS) is a disorder that results in several physical and developmental abnormalities. The cause of CdLS is unknown at this time, however, it is thought that the disorder may be of a genetic nature (possibly a faulty gene on chromosome 3). Most cases are sporadic, however, there has been documentation of affected siblings, which would suggest inheritance. It is said to occur in 1 in 10,000 to 1 in 30,000 live births and is found equally in males and females. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed. CdLS was first described in 1916 by Dr. W. Brachmann and was later identified again by Dr. Cornelia de Lange, a Dutch pediatrician, in 1933. Both physicians described children with common symptoms and characteristics (as shown below). Features and Characteristics There are several physical and developmental characteristics that are associated with CdLS, however, not every individual has all the characteristics. The following is a list of the most common traits: Low birth weight (usually under 5 pounds) Delayed growth and small stature Developmental delay Limb differences (sometimes missing limbs or portions of limbs) Small head size (microcephaly) Thin eyebrows which typically meet at midline Long eyelashes Short upturned nose and thin downturned lips Long philtrum Excessive body hair

15. Special Child: Disorder Zone Archives Multiplex Congenita Asperger Syndrome Attention Deficit Hyperactivity DisorderAutism Cerebral Palsy CHARGE Syndrome Cornelia de lange syndrome Cri Du Chat http://www.specialchild.com/disorder.html

Disorder Zone Archives Angelman Syndrome Apert Syndrome Arthrogryposis Multiplex Congenita Asperger Syndrome ... Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges By using Special Child and related services, you agree to abide by the terms and conditions

16. HealthlinkUSA Cornelia De Lange Syndrome Links AhHa. Click here for page 1 of Cornelia de lange syndrome informationfrom the HealthlinkUSA directory. Save on Drugs Here. Accutane; http://www.healthlinkusa.com/82ent.htm

17. HealthlinkUSA Cornelia De Lange Syndrome Links Try it, you'll love it! AhHa. Click here for page 1 of Cornelia de lange syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here. http://www.healthlinkusa.com/cornelia_de_lange_syndrome.htm

18. Health Information Resource Database: Cornelia De Lange Syndrome Foundation, Inc Services.. Cornelia de lange syndrome Foundation, Inc. Contact Information.Director 302 West Main Street 100 Avon, CT 06001. 800 http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2107

19. Database Search Results Database Search Results. Searched keywords for Cornelia de lange syndrome.Cornelia de lange syndrome Foundation, Inc. NHIC Home Page http://www.health.gov/NHIC/NHICScripts/Hitlist.cfm?Keyword=Cornelia de Lange Syn

20. DE LANGE SYNDROME Features Listed For de lange syndrome. McKusick 122470. Absent fingers oroligodactyly; Annular pancreas; Cleft palate; Colon, general abnormalities; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?422

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